Individual #00155692

ID_report -
Reference contributed by Dept. of Dr Vaccaro
Remarks -
Gender -
Consanguinity -
Country Argentina
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases ?
Owner name Angela Solano & F Cardoso


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000156557 DNA SEQ - - - 4 Angela Solano & F Cardoso



Variants

4 entries on 1 page. Showing entries 1 - 4.
Legend  

Chr     

Allele     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     

Gene     

Effect     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein level     
2 Unknown g.47693788A>T - - - MSH2_000422 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso MSH2 -/. - - - - - 9i NM_000251.2:c.1511-9A>T - benign r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
2 Unknown g.47693959G>A - - - MSH2_000995 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso MSH2 -/. - - - - - 10i NM_000251.2:c.1661+12G>A - benign r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
3 Unknown g.37053568A>G - - - MLH1_000294 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso MLH1 -/. - - - - - 8 NM_000249.3:c.655A>G - benign r.(?) p.(Ile219Val) - - - - - - - - - - - - - - - - - - -
3 Unknown g.37089130_37089132del - 1852_1854delAAG - MLH1_000063 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso MLH1 +/. - - - - - 16 NM_000249.3:c.1852_1854del - pathogenic r.(?) p.(Lys618del) - - - - - - - - - - - - - - - - - - -
Legend